Canonical Allele Identifier: CA410197259
Gene: KCNE2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.35743140G>A (hg19) chr21:g.34370841G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34370841G>A , CM000683.2:g.34370841G>A GRCh38
NC_000021.8:g.35743140G>A , CM000683.1:g.35743140G>A GRCh37
NC_000021.7:g.34665010G>A NCBI36
NG_008804.1:g.11818G>A , LRG_291:g.11818G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000290310.4:c.363G>A MANE Select ENSP00000290310.2:p.Met121Ile
ENST00000290310.3:c.363G>A ENSP00000290310.2:p.Met121Ile
NM_172201.1:c.363G>A , LRG_291t1:c.363G>A NP_751951.1:p.Met121Ile
XR_937683.1:n.480C>T
XR_937684.1:n.480C>T
XR_001755012.2:n.601C>T
XR_001755013.2:n.480C>T
XR_937683.2:n.480C>T
NM_172201.2:c.363G>A MANE Select NP_751951.1:p.Met121Ile
Search 100 bp 5'
Search 100 bp 3'